Auriculoosteodysplasia

Summary

Auriculoosteodysplasia (MONDO:0007177) is a disease. A subtype of musculoskeletal system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 10

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0000889	Abnormality of the clavicle	Very frequent (80-99%)
HP:0003042	Elbow dislocation	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0006501	Aplasia/Hypoplasia of the radius	Very frequent (80-99%)
HP:0009906	Aplasia/Hypoplasia of the earlobes	Very frequent (80-99%)
HP:0009907	Attached earlobe	Very frequent (80-99%)
HP:0001385	Hip dysplasia	Frequent (30-79%)
HP:0000400	Macrotia	Occasional (5-29%)
HP:0003019	Abnormality of the wrist	Occasional (5-29%)
HP:0005916	Abnormal metacarpal morphology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	auriculoosteodysplasia
Mondo ID	MONDO:0007177
MeSH	C538271
OMIM	109000
Orphanet	114
UMLS	C1862381
MedGen	400038
GARD	0008663
Is cancer (heuristic)	no

Also known as: auriculo-osteodysplasia · auriculoosteodysplasia · multiple osseous dysplasia, characteristic ear shape, and short stature

Disease family

This is a subtype of musculoskeletal system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › auriculoosteodysplasia

Related subtypes (21): autoimmune disorder of musculoskeletal system, musculoskeletal system benign neoplasm, musculoskeletal system cancer, Klippel-Feil syndrome, enthesopathy, muscle tissue disorder, fasciitis, skeletal system disorder, synovial chondromatosis, hypertrophic osteoarthropathy, primary, autosomal dominant, Upington disease, Ramon syndrome, osteoporosis-oculocutaneous hypopigmentation syndrome, short stature, Brussels type, wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia, CINCA syndrome, chondrodysplasia with joint dislocations, gPAPP type, ligament disorder, synovium disorder, disease of the tendon, Short stature, Dauber-Argente type

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.